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Results 1 - 10 of 50 for Lynch syndrome 8
  1. Lynch syndrome 
    ... Testing Registry: Lynch syndrome 5 Genetic Testing Registry: Lynch syndrome 8 Genetic Testing Registry: Hereditary nonpolyposis colon cancer Lynch syndrome National Organization for Rare Disorders (NORD) ClinicalTrials. ...
    https://medlineplus.gov/genetics/condition/lynch-syndrome - Genetics
  2. EPCAM gene 
    ... and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer. 2009 Aug;48(8):737-44. doi: 10.1002/gcc.20678. Citation ...
    https://medlineplus.gov/genetics/gene/epcam - Genetics
  3. Constitutional mismatch repair deficiency syndrome 
    ... E, Wimmer K. Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants. NPJ Precis Oncol. 2024 May 24;8(1):119. doi: 10.1038/s41698-024-00603- ...
    https://medlineplus.gov/...ional-mismatch-repair-deficiency-syndrome - Genetics
  4. GBE1 gene 
    ... on PubMed Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8. doi: 10.1002/mus.10520. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
  5. Adult polyglucosan body disease 
    ... on PubMed Klein CJ, Boes CJ, Chapin JE, Lynch CD, Campeau NG, Dyck PJ, Dyck PJ. Adult polyglucosan body disease: case description of an expanding genetic and clinical syndrome. Muscle Nerve. 2004 Feb;29(2):323-8. doi: 10.1002/mus.10520. Citation on PubMed ...
    https://medlineplus.gov/.../adult-polyglucosan-body-disease - Genetics
  6. Coffin-Siris syndrome 
    ... B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA. The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A. 2012 Aug;158A(8):1865-76. doi: 10.1002/ajmg.a.35415. ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  7. Perrault syndrome 
    ... article on PubMed Central Pierce SB, Chisholm KM, Lynch ED, ... S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr ...
    https://medlineplus.gov/genetics/condition/perrault-syndrome - Genetics
  8. HARS2 gene 
    ... 26. Citation on PubMed Pierce SB, Chisholm KM, Lynch ED, ... U S A. 2011 Apr 19;108(16):6543-8. doi: 10.1073/pnas.1103471108. Epub 2011 Apr ...
    https://medlineplus.gov/genetics/gene/hars2 - Genetics
  9. Juvenile polyposis syndrome 
    ... Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT. The prevalence ... polyposis syndrome. J Mol Diagn. 2006 Feb;8(1):84-8. doi: 10.2353/jmoldx.2006. ...
    https://medlineplus.gov/.../condition/juvenile-polyposis-syndrome - Genetics
  10. BMPR1A gene 
    ... Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT. The prevalence ... polyposis syndrome. J Mol Diagn. 2006 Feb;8(1):84-8. doi: 10.2353/jmoldx.2006. ...
    https://medlineplus.gov/genetics/gene/bmpr1a - Genetics
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